. 2011 Apr 8;88(4):488–493. doi: 10.1016/j.ajhg.2011.03.002

Table 1.

Activity of Respiratory Chain Enzymes in Fibroblasts from Patient P1

Enzyme	Enzyme Activity^a	Control Range^a
Complex I	150	100–310
Complex II	528	520–845
Complex III	1523	1320–2610
Complex IV	150	680–1190
Citrate synthase	206	144–257

Patient P1 is homozygous for the c.157G>C mutation in C2orf64.

Activities of complex I, complex II, complex III, and complex IV are expressed as milliunits per unit citrate synthase (CS); activity of citrate synthase is expressed as milliunits per milligram protein.